1 - 25 of 64 results for author:"Hejtmancik J.F." in Literature citations
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| EPHA2 polymorphisms and age-related cataract in India. Sundaresan P., Ravindran R.D., Vashist P., Shanker A., Nitsch D., Talwar B., Maraini G., Camparini M., Nonyane B.A., Smeeth L. et al. PLoS ONE 7:e33001-e33001(2012) · Mapped (5) |
| Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations. Li L., Xiao X., Li S., Jiao X., Hejtmancik J.F., Zhang Q. Mol. Vis. 17:3326-3332(2011) · Mapped (5) |
| GNAT1 associated with autosomal recessive congenital stationary night blindness. Naeem M.A., Chavali V.R., Ali S., Iqbal M., Riazuddin S., Khan S.N., Husnain T., Sieving P.A., Ayyagari R., Riazuddin S. et al. Invest. Ophthalmol. Vis. Sci. 53:1353-1361(2012) · Mapped (1) |
| Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families. Iqbal M., Naeem M.A., Riazuddin S.A., Ali S., Farooq T., Qazi Z.A., Khan S.N., Husnain T., Riazuddin S., Sieving P.A. et al. Arch. Ophthalmol. 129:1351-1357(2011) · Mapped (6) |
| Mutations in the beta-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. Ali S., Riazuddin S.A., Shahzadi A., Nasir I.A., Khan S.N., Husnain T., Akram J., Sieving P.A., Hejtmancik J.F., Riazuddin S. Mol. Vis. 17:1373-1380(2011) · Mapped (2) |
| Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Chen J., Ma Z., Jiao X., Fariss R., Kantorow W.L., Kantorow M., Pras E., Frydman M., Pras E., Riazuddin S. et al. Am. J. Hum. Genet. 88:827-838(2011) · UniProtKB (2) · Mapped (1) |
| Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. Li L., Xiao X., Li S., Jia X., Wang P., Guo X., Jiao X., Zhang Q., Hejtmancik J.F. PLoS ONE 6:E19458-E19458(2011) · UniProtKB (10) |
| Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. Naz S., Ali S., Riazuddin S.A., Farooq T., Butt N.H., Zafar A.U., Khan S.N., Husnain T., Macdonald I.M., Sieving P.A. et al. Br J Ophthalmol 95:1019-1024(2011) · Mapped (1) |
| Overexpression of human gammaC-crystallin 5 bp duplication disrupts lens morphology in transgenic mice. Ma Z., Yao W., Theendakara V., Chan C.C., Wawrousek E., Hejtmancik J.F. Invest. Ophthalmol. Vis. Sci. 52:5369-5375(2011) · Mapped (1) |
| Association analysis of nine candidate gene polymorphisms in Indian patients with type 2 diabetic retinopathy. Balasubbu S., Sundaresan P., Rajendran A., Ramasamy K., Govindarajan G., Perumalsamy N., Hejtmancik J.F. BMC Med. Genet. 11:158-158(2010) · Mapped (20) |
| A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Riazuddin S.A., Shahzadi A., Zeitz C., Ahmed Z.M., Ayyagari R., Chavali V.R., Ponferrada V.G., Audo I., Michiels C., Lancelot M.E. et al. Am. J. Hum. Genet. 87:523-531(2010) · UniProtKB (1) · Mapped (3) |
| A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. Li L., Nakaya N., Chavali V.R., Ma Z., Jiao X., Sieving P.A., Riazuddin S., Tomarev S.I., Ayyagari R., Riazuddin S.A. et al. Am. J. Hum. Genet. 87:400-409(2010) · UniProtKB (2) · Mapped (3) |
| Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. Shahzadi A., Riazuddin S.A., Ali S., Li D., Khan S.N., Husnain T., Akram J., Sieving P.A., Hejtmancik J.F., Riazuddin S. Br J Ophthalmol 94:1094-1099(2010) · Mapped (8) |
| A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Riazuddin S.A., Iqbal M., Wang Y., Masuda T., Chen Y., Bowne S., Sullivan L.S., Waseem N.H., Bhattacharya S., Daiger S.P. et al. Am. J. Hum. Genet. 86:805-812(2010) · UniProtKB (2) · Mapped (3) |
| Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1. Yasmeen A., Riazuddin S.A., Kaul H., Mohsin S., Khan M., Qazi Z.A., Nasir I.A., Zafar A.U., Khan S.N., Husnain T. et al. Mol. Vis. 16:682-688(2010) · Mapped (5) |
| Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Kaul H., Riazuddin S.A., Shahid M., Kousar S., Butt N.H., Zafar A.U., Khan S.N., Husnain T., Akram J., Hejtmancik J.F. et al. Mol. Vis. 16:511-517(2010) · Mapped (5) |
| Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. Li N., Mei H., MacDonald I.M., Jiao X., Hejtmancik J.F. Invest. Ophthalmol. Vis. Sci. 51:1036-1043(2010) · UniProtKB (1) · Mapped (9) |
| The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress. Ma Z., Piszczek G., Wingfield P.T., Sergeev Y.V., Hejtmancik J.F. Biochemistry 48:7334-7341(2009) · Mapped (2) |
| Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31. Riazuddin S.A., Amiri-Kordestani L., Kaul H., Butt T., Jiao X., Riazuddin S., Hejtmancik J.F. Mol. Vis. 15:1050-1056(2009) · Mapped (3) |
| Null mutations in LTBP2 cause primary congenital glaucoma. Ali M., McKibbin M., Booth A., Parry D.A., Jain P., Riazuddin S.A., Hejtmancik J.F., Khan S.N., Firasat S., Shires M. et al. Am. J. Hum. Genet. 84:664-671(2009) · UniProtKB (2) · Mapped (9) |
| Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure. Brown J.D., Dutta S., Bharti K., Bonner R.F., Munson P.J., Dawid I.B., Akhtar A.L., Onojafe I.F., Alur R.P., Gross J.M. et al. Proc. Natl. Acad. Sci. U.S.A. 106:1462-1467(2009) · Mapped (12) |
| The EPHA2 gene is associated with cataracts linked to chromosome 1p. Shiels A., Bennett T.M., Knopf H.L.S., Maraini G., Li A., Jiao X., Hejtmancik J.F. |
| Association properties of betaB1- and betaA3-crystallins: ability to form heterotetramers. Chan M.P., Dolinska M., Sergeev Y.V., Wingfield P.T., Hejtmancik J.F. Biochemistry 47:11062-11069(2008) · Mapped (4) |
| Crystallin gene mutations in Indian families with inherited pediatric cataract. Devi R.R., Yao W., Vijayalakshmi P., Sergeev Y.V., Sundaresan P., Hejtmancik J.F. Mol. Vis. 14:1157-1170(2008) |
| Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus. Li N., Wang L., Cui L., Zhang L., Dai S., Li H., Chen X., Zhu L., Hejtmancik J.F., Zhao K. Mol. Vis. 14:733-738(2008) · UniProtKB (1) |